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FLASH GENE
Symbol AP2M1 contributors: mct - updated : 19-06-2019
HGNC name adaptor-related protein complex 2, mu 1 subunit
HGNC id 564
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 1958 49.5 435 - 2018 30135209
variant 1-isoform a
11 - 1952 49.3 433 - 2018 30135209
variant 2-isoform b
14 - 2033 - 460 - 2018 30135209
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Cardiovascularheart    
Digestiveliver    
Nervousbrain   highly Homo sapiens
Reproductivemale systemtestis   
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
Nervouscentral  highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • adaptor complexes medium subunit family
  • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • involved in regulation of the proton pumping vacuolar ATPase responsible for proton pumpung occuring in the acidification of endosomes and lyposomes
  • putatively mediating rapid internalization through the recognition of tyrosine-based sorting signals
  • potential regulation of CTLA4 endocytosis and function
  • is required for release site replenishment and hearing
  • encodes the mu-subunit of the adaptor protein complex 2 (AP-2), which is involved in clathrin-mediated endocytosis (CME) and synaptic vesicle recycling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • component of assembly complex AP2, clathrin coat assembly complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CTLA4
  • AP2M1 is an interacting partner of RNF111
  • interaction between MAP1LC3A and AP2M1 as well as PICALM showed a significant increase triggered by starvation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD60
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • is a promising biomarker for predicting survival of patients with hepatocellular carcinoma
  • Therapy target
    ANIMAL & CELL MODELS